MRXST
MCID: MNT058
MIFTS: 41

Mental Retardation, X-Linked, Syndromic, Turner Type (MRXST)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic, Turner Type

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Turner Type:

Name: Mental Retardation, X-Linked, Syndromic, Turner Type 56 73 29 6 71
Juberg-Marsidi Syndrome 56 74 52 73 54
Jms 56 52 73
Mental Retardation, X-Linked, with Growth Retardation, Deafness, and Microgenitalism 56 73
Mental Retardation, X-Linked, Syndromic, Brooks-Wisniewski-Brown Type 56 73
Mental Retardation, X-Linked Syndromic, Turner Type 56 39
Mental Retardation and Macrocephaly Syndrome 56 73
Brooks-Wisniewski-Brown Syndrome 56 73
Mrxsbwb 56 73
Mrxst 56 73
Intellectual Disability, X-Linked, with Growth Retardation, Deafness, and Microgenitalism 52
Mental Retardation, X-Linked, Syndromic, Brooks-Wisniewski-Brown Type; Mrxsbwb 56
Intellectual Disability, X-Linked with Growth Delay, Deafness, Microgenitalism 52
X-Linked Intellectual Disability-Hypotonic Facies Syndrome 1 52
X-Linked Hypogonadism Gynecomastia Intellectual Disability 52
Juberg-Marsidi Intellectual Disability Syndrome 52
X-Linked Mental Retardation Brooks Type 52
Brooks Wisniewski Brown Syndrome 52
Juberg-Marsidi Syndrome; Jms 56
Smith-Fineman-Myers Syndrome 52
Juberg Marsidi Syndrome 52

Characteristics:

OMIM:

56
Miscellaneous:
onset in infancy
highly variable phenotype
some carrier females are unaffected
some females with de novo mutations are severely affected

Inheritance:
x-linked


HPO:

31
mental retardation, x-linked, syndromic, turner type:
Inheritance x-linked inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Mental Retardation, X-Linked, Syndromic, Turner Type

OMIM : 56 Turner-type X-linked syndromic mental retardation (MRXST) is a neurodevelopmental disorder with a highly variable phenotype. Some affected families show X-linked recessive inheritance, with only males being affected and carrier females having no abnormal findings. In other affected families, males are severely affected, and female mutation carriers show milder cognitive abnormalities or dysmorphic features. In addition, there are female patients with de novo mutations who show the full phenotype, despite skewed X-chromosome inactivation. Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. Dysmorphic features are common and can include macrocephaly, microcephaly, deep-set eyes, hypotelorism, small palpebral fissures, dysplastic, large, or low-set ears, long face, bitemporal narrowing, high-arched palate, thin upper lip, and scoliosis or mild distal skeletal anomalies, such as brachydactyly or tapered fingers. Males tend to have cryptorchidism. Other features, such as hypotonia, seizures, and delayed bone age, are more variable (summary by Moortgat et al., 2018). (309590)

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Turner Type, also known as juberg-marsidi syndrome, is related to microcephaly and syndromic x-linked intellectual disability turner type. An important gene associated with Mental Retardation, X-Linked, Syndromic, Turner Type is HUWE1 (HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1). Affiliated tissues include eye, bone and prostate, and related phenotypes are intellectual disability, severe and delayed skeletal maturation

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3056 Definition X-linked intellectual disability , Brooks type is a rare X-linked intellectual disability syndrome characterized by failure to thrive, speech delay, intellectual disability, muscle hypotonia , spastic diplegia, optic atrophy with myopia, and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures . Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 73 Mental retardation, X-linked, syndromic, Turner type: A X-linked neurodevelopmental disorder with highly variable clinical manifestations. Common features consist of moderate to profound intellectual disability, delayed or absent speech, short stature with small hands and feet, and non-specific but recurrent dysmorphic facial features such as macrocephaly, microcephaly, a broad nasal tip, deep set eyes, epicanthic folds, short palpebral fissures and a short philtrum. Patients may manifest other features, such as hypotonia, seizures and delayed bone age.

Wikipedia : 74 Smith-Fineman-Myers syndrome (SFMS1) is a congenital disorder that causes birth defects. This syndrome... more...

Related Diseases for Mental Retardation, X-Linked, Syndromic, Turner Type

Diseases related to Mental Retardation, X-Linked, Syndromic, Turner Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 microcephaly 29.5 HUWE1 ATRX
2 syndromic x-linked intellectual disability turner type 11.8
3 mental retardation smith fineman myers type 11.6
4 johnson neuroectodermal syndrome 11.4
5 mental retardation-hypotonic facies syndrome, x-linked, 1 11.2
6 mental retardation, x-linked, syndromic, cabezas type 10.8
7 hypotonia 10.6
8 brown syndrome 10.6
9 spastic diplegia 10.6
10 cleft palate, isolated 10.5
11 hypertonia 10.5
12 3-methylglutaconic aciduria, type iii 10.4
13 alcohol-related neurodevelopmental disorder 10.4
14 myopia 10.4
15 entropion 10.4
16 mitochondrial disorders 10.4
17 encephalopathy 10.4
18 cryptorchidism, unilateral or bilateral 10.4
19 branchiootic syndrome 1 10.4
20 alpha-thalassemia 10.4
21 thalassemia 10.4
22 alacrima, achalasia, and mental retardation syndrome 10.3
23 infant gynecomastia 10.3
24 gynecomastia 10.3
25 hydrocephalus 10.3
26 lymphocytic leukemia 10.3
27 congenital hydrocephalus 10.3
28 back pain 10.2
29 bladder cancer 10.1
30 body mass index quantitative trait locus 1 10.1
31 ovarian cancer 10.1
32 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1
33 allergic hypersensitivity disease 10.1
34 neutropenia 10.1
35 hypogonadism 10.1
36 neonatal jaundice 10.1
37 hypogonadotropism 10.1
38 48,xyyy 10.1
39 chronic pain 10.1
40 breast cancer 9.9
41 colorectal cancer 9.9
42 renal cell carcinoma, nonpapillary 9.9
43 ocular dominance 9.9
44 sarcoidosis 1 9.9
45 triiodothyronine receptor auxiliary protein 9.9
46 vesicoureteral reflux 1 9.9
47 lung cancer 9.9
48 lymphoma, hodgkin, classic 9.9
49 hydrocephalus, congenital, 1 9.9
50 myeloma, multiple 9.9

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, Syndromic, Turner Type:



Diseases related to Mental Retardation, X-Linked, Syndromic, Turner Type

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Turner Type

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Turner Type:

31 (show top 50) (show all 69)
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 31 hallmark (90%) HP:0010864
2 delayed skeletal maturation 31 frequent (33%) HP:0002750
3 depressed nasal bridge 31 frequent (33%) HP:0005280
4 short stature 31 frequent (33%) HP:0004322
5 cryptorchidism 31 frequent (33%) HP:0000028
6 sensorineural hearing impairment 31 frequent (33%) HP:0000407
7 epicanthus 31 frequent (33%) HP:0000286
8 micropenis 31 frequent (33%) HP:0000054
9 exotropia 31 frequent (33%) HP:0000577
10 narrow palpebral fissure 31 frequent (33%) HP:0045025
11 accessory scrotum 31 frequent (33%) HP:0030274
12 seizures 31 very rare (1%) HP:0001250
13 hearing impairment 31 very rare (1%) HP:0000365
14 craniosynostosis 31 very rare (1%) HP:0001363
15 macrocephaly 31 HP:0000256
16 low-set ears 31 HP:0000369
17 pectus excavatum 31 HP:0000767
18 clinodactyly 31 HP:0030084
19 intellectual disability 31 HP:0001249
20 hyperreflexia 31 HP:0001347
21 scoliosis 31 HP:0002650
22 ptosis 31 HP:0000508
23 nystagmus 31 HP:0000639
24 high palate 31 HP:0000218
25 global developmental delay 31 HP:0001263
26 brachydactyly 31 HP:0001156
27 micrognathia 31 HP:0000347
28 downslanted palpebral fissures 31 HP:0000494
29 microcephaly 31 HP:0000252
30 optic atrophy 31 HP:0000648
31 brachycephaly 31 HP:0000248
32 long philtrum 31 HP:0000343
33 skeletal muscle atrophy 31 HP:0003202
34 short philtrum 31 HP:0000322
35 protruding ear 31 HP:0000411
36 hyperactivity 31 HP:0000752
37 generalized hypotonia 31 HP:0001290
38 short foot 31 HP:0001773
39 absent speech 31 HP:0001344
40 narrow mouth 31 HP:0000160
41 low posterior hairline 31 HP:0002162
42 myopia 31 HP:0000545
43 wide mouth 31 HP:0000154
44 hypospadias 31 HP:0000047
45 deeply set eye 31 HP:0000490
46 small hand 31 HP:0200055
47 thin upper lip vermilion 31 HP:0000219
48 posteriorly rotated ears 31 HP:0000358
49 upslanted palpebral fissure 31 HP:0000582
50 high forehead 31 HP:0000348

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
microcephaly

Chest External Features:
pectus excavatum

Neurologic Central Nervous System:
hyperreflexia
global developmental delay
absent speech
poor coordination
cerebral atrophy
more
Head And Neck Eyes:
ptosis
nystagmus
optic atrophy
strabismus
myopia
more
Growth Height:
short stature

Head And Neck Face:
micrognathia
long philtrum
short philtrum
high forehead
long face
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features

Growth Other:
small for gestational age
generalized severe growth retardation

Head And Neck Mouth:
thin upper lip
high-arched palate
small mouth
large mouth

Skeletal:
delayed bone age
joint contractures

Growth Weight:
decreased weight for age

Head And Neck Ears:
low-set ears
posteriorly rotated ears
protruding ears
cupped ears
hearing impairment (in some patients)

Skeletal Hands:
clinodactyly
brachydactyly
camptodactyly
small hands
tapering fingers
more
Skeletal Spine:
scoliosis

Head And Neck Nose:
depressed nasal bridge
bulbous nose

Genitourinary External Genitalia Male:
cryptorchidism
hypospadias
small penis
undeveloped scrotum

Skeletal Skull:
brachycephaly
trigonocephaly
craniosynostosis (in some patients)

Skin Nails Hair Hair:
low posterior hairline
hyperpilosity

Head And Neck Teeth:
oligodontia
malposition of the teeth

Muscle Soft Tissue:
hypotonia
muscle atrophy

Skeletal Feet:
overlapping toes
foot deformities
small feet
elongated hallux

Clinical features from OMIM:

309590

GenomeRNAi Phenotypes related to Mental Retardation, X-Linked, Syndromic, Turner Type according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.62 ATRX HUWE1

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic, Turner Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Turner Type

Genetic Tests for Mental Retardation, X-Linked, Syndromic, Turner Type

Genetic tests related to Mental Retardation, X-Linked, Syndromic, Turner Type:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic, Turner Type 29 HUWE1

Anatomical Context for Mental Retardation, X-Linked, Syndromic, Turner Type

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic, Turner Type:

40
Eye, Bone, Prostate, Skeletal Muscle, Breast, Brain, Heart

Publications for Mental Retardation, X-Linked, Syndromic, Turner Type

Articles related to Mental Retardation, X-Linked, Syndromic, Turner Type:

(show all 25)
# Title Authors PMID Year
1
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. 61 56 6
27130160 2016
2
Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome. 56 6
30797980 2020
3
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. 56 6
29180823 2018
4
Diagnostic value of exome and whole genome sequencing in craniosynostosis. 56 6
27884935 2017
5
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. 56 6
25985138 2015
6
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. 56 6
18252223 2008
7
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. 56 6
16700052 2006
8
X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene localization. 56 6
7943042 1994
9
New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation. 56 6
7943044 1994
10
A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism. 56 6
6107045 1980
11
Juberg-Marsidi syndrome: report of an additional case. 61 56
8533845 1995
12
Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability. 6
29651030 2018
13
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. 56
27615324 2017
14
Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome. 56
16477654 2006
15
A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21. 56
9863601 1998
16
X-linked mental retardation syndrome: three brothers with the Brooks-Wisniewski-Brown syndrome. 56
8826449 1996
17
An X-linked syndrome with microcephaly, severe mental retardation, spasticity, epilepsy and deafness. 56
7077653 1982
18
Molecular-clinical spectrum of the ATR-X syndrome. 54 61
11449489 2000
19
XNP mutation in a large family with Juberg-Marsidi syndrome. 54 61
8630485 1996
20
Lethal X-linked microcephaly with dysmorphic features, bilateral optic pathway aplasia and normal eyes. 61
11603816 2001
21
Helicases and aging. 61
10892338 2000
22
Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase. 61
9244431 1997
23
Construction of a YAC contig spanning the Xq13.3 subband. 61
7782069 1995
24
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? 61
7726226 1995
25
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21). 61
8503439 1993

Variations for Mental Retardation, X-Linked, Syndromic, Turner Type

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Turner Type:

6 (show all 34) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HUWE1 NM_031407.7(HUWE1):c.12928G>C (p.Gly4310Arg)SNV Pathogenic 375725 rs1556909287 X:53561062-53561062 X:53534101-53534101
2 HUWE1 NM_031407.7(HUWE1):c.567+1G>CSNV Pathogenic 375711 rs1557024919 X:53661187-53661187 X:53634235-53634235
3 HUWE1 NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)SNV Pathogenic 375709 rs1557036768 X:53674333-53674333 X:53647390-53647390
4 HUWE1 NM_031407.7(HUWE1):c.12188G>A (p.Arg4063Gln)SNV Pathogenic 627417 rs1569399945 X:53563578-53563578 X:53536617-53536617
5 HUWE1 NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)SNV Pathogenic/Likely pathogenic 280723 rs886041876 X:53578039-53578039 X:53551078-53551078
6 HUWE1 NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His)SNV Likely pathogenic 374333 rs1057518704 X:53622288-53622288 X:53595328-53595328
7 HUWE1 NM_031407.7(HUWE1):c.9581T>C (p.Phe3194Ser)SNV Likely pathogenic 375717 rs782393002 X:53576374-53576374 X:53549413-53549413
8 HUWE1 NM_031407.7(HUWE1):c.6267T>G (p.Ile2089Met)SNV Likely pathogenic 375716 rs1556955128 X:53600755-53600755 X:53573795-53573795
9 HUWE1 NM_031407.7(HUWE1):c.4013C>T (p.Ala1338Val)SNV Likely pathogenic 216942 rs863224879 X:53618042-53618042 X:53591082-53591082
10 HUWE1 NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His)SNV Likely pathogenic 10677 rs121918526 X:53578381-53578381 X:53551420-53551420
11 HUWE1 NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)SNV Likely pathogenic 10678 rs121918527 X:53562435-53562435 X:53535474-53535474
12 HUWE1 NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn)SNV Likely pathogenic 375724 rs1325394060 X:53561105-53561105 X:53534144-53534144
13 HUWE1 NM_031407.7(HUWE1):c.12732G>C (p.Glu4244Asp)SNV Likely pathogenic 375723 rs1556910184 X:53561576-53561576 X:53534615-53534615
14 HUWE1 NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val)SNV Likely pathogenic 375722 rs1556912828 X:53563170-53563170 X:53536209-53536209
15 HUWE1 NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys)SNV Likely pathogenic 375721 rs1556913180 X:53563449-53563449 X:53536488-53536488
16 HUWE1 NM_031407.7(HUWE1):c.12225C>G (p.Asn4075Lys)SNV Likely pathogenic 375720 rs1556913258 X:53563541-53563541 X:53536580-53536580
17 HUWE1 NM_031407.7(HUWE1):c.12205A>T (p.Ile4069Phe)SNV Likely pathogenic 375719 rs1556913268 X:53563561-53563561 X:53536600-53536600
18 HUWE1 NM_031407.7(HUWE1):c.145-2A>GSNV Likely pathogenic 617512 rs1569509136 X:53674519-53674519 X:53647576-53647576
19 HUWE1 NM_031407.7(HUWE1):c.6098-20_6109deldeletion Likely pathogenic 807431 X:53600913-53600944 X:53573953-53573984
20 HUWE1 NM_031407.7(HUWE1):c.344C>T (p.Ser115Phe)SNV Likely pathogenic 375710 rs1557036757 X:53674318-53674318 X:53647375-53647375
21 HUWE1 NM_031407.7(HUWE1):c.3982A>G (p.Met1328Val)SNV Likely pathogenic 375714 rs1556978515 X:53618073-53618073 X:53591113-53591113
22 HUWE1 NM_031407.7(HUWE1):c.2007T>G (p.His669Gln)SNV Likely pathogenic 375713 rs1557006873 X:53642747-53642747 X:53615786-53615786
23 HUWE1 NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg)SNV Likely pathogenic 375712 rs1557006903 X:53642776-53642776 X:53615815-53615815
24 HUWE1 NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp)SNV Conflicting interpretations of pathogenicity 379239 rs1057520538 X:53674334-53674334 X:53647391-53647391
25 HUWE1 NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp)SNV Conflicting interpretations of pathogenicity 10676 rs121918525 X:53564617-53564617 X:53537656-53537656
26 HUWE1 NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)SNV Conflicting interpretations of pathogenicity 375718 rs1556914274 X:53564587-53564587 X:53537626-53537626
27 HUWE1 NM_031407.7(HUWE1):c.11701C>T (p.Arg3901Ter)SNV Uncertain significance 225389 rs1085307073 X:53565973-53565973 X:53539012-53539012
28 HUWE1 NM_031407.7(HUWE1):c.4639G>A (p.Val1547Met)SNV Uncertain significance 634630 rs1569473370 X:53613845-53613845 X:53586885-53586885
29 HUWE1 NM_031407.7(HUWE1):c.659C>T (p.Thr220Ile)SNV Uncertain significance 690383 X:53658553-53658553 X:53631601-53631601
30 HUWE1 NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe)SNV Uncertain significance 424416 rs143599552 X:53561130-53561130 X:53534169-53534169
31 HUWE1 NM_031407.7(HUWE1):c.4229C>T (p.Ala1410Val)SNV Uncertain significance 547839 rs200500110 X:53616739-53616739 X:53589779-53589779
32 HUWE1 NM_031407.7(HUWE1):c.-24-2A>GSNV Uncertain significance 561031 rs1569511527 X:53681077-53681077 X:53654133-53654133
33 HUWE1 NM_031407.7(HUWE1):c.4546C>G (p.Gln1516Glu)SNV Likely benign 804010 X:53615410-53615410 X:53588450-53588450
34 HUWE1 NM_031407.7(HUWE1):c.4942A>T (p.Ser1648Cys)SNV Benign 375715 rs201226547 X:53612031-53612031 X:53585071-53585071

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic, Turner Type:

73 (show all 21)
# Symbol AA change Variation ID SNP ID
1 HUWE1 p.Arg2981His VAR_045670 rs121918526
2 HUWE1 p.Arg4013Trp VAR_045671 rs121918525
3 HUWE1 p.Arg4187Cys VAR_045672 rs121918527
4 HUWE1 p.Arg110Gln VAR_082247 rs155703676
5 HUWE1 p.Arg110Trp VAR_082248 rs105752053
6 HUWE1 p.Ser115Phe VAR_082249 rs155703675
7 HUWE1 p.Gly660Arg VAR_082250 rs155700690
8 HUWE1 p.His669Gln VAR_082251 rs155700687
9 HUWE1 p.Met1328Val VAR_082252 rs155697851
10 HUWE1 p.Ile2089Met VAR_082253 rs155695512
11 HUWE1 p.Arg3070Cys VAR_082254 rs886041876
12 HUWE1 p.Phe3194Ser VAR_082255
13 HUWE1 p.Arg4023Cys VAR_082256 rs155691427
14 HUWE1 p.Arg4063Gln VAR_082257
15 HUWE1 p.Ile4069Phe VAR_082258 rs155691326
16 HUWE1 p.Asn4075Lys VAR_082259 rs155691325
17 HUWE1 p.Tyr4106Cys VAR_082260 rs155691318
18 HUWE1 p.Leu4157Val VAR_082261 rs155691282
19 HUWE1 p.Glu4244Asp VAR_082262 rs155691018
20 HUWE1 p.Lys4295Asn VAR_082263
21 HUWE1 p.Gly4310Arg VAR_082264 rs155690928

Expression for Mental Retardation, X-Linked, Syndromic, Turner Type

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic, Turner Type.

Pathways for Mental Retardation, X-Linked, Syndromic, Turner Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Turner Type

Biological processes related to Mental Retardation, X-Linked, Syndromic, Turner Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 8.96 HUWE1 ATRX
2 DNA repair GO:0006281 8.62 HUWE1 ATRX

Sources for Mental Retardation, X-Linked, Syndromic, Turner Type

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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